C5436699[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285441	NM_014712.3(SETD1A):c.1143del (p.Tyr382fs)	SETD1A (Y382fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 1712332	NM_014712.3(SETD1A):c.2569G>T (p.Glu857Ter)	SETD1A (E857*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic